Abstract
When boys affected with steroid sulfatase deficiency are delivered, the lack of the enzyme in the placenta may cause birth complications. In postnatal life this gene defect gives rise to X-linked recessive ichthyosis. In a series of 25 patients birth complications were reported in 9 cases. Of these boys, 4 displayed bilateral inguinal cryptorchidism and one was affected unilaterally. In a further boy we obsered unilateral inguinal cryptorchidism without a history of birth complications. In one patient who had been delivered by forceps, abdominal bilateral cryptorchidism resulted in severe hypogenitalism. A review of the literature revealed 30 cases with X-linked recessive ichthyosis displaying hypogenitalism or crytorchidism or both. In conclusion, cryptorchidism should be considered as a further clinical manifestation of steroid sulfatase deficiency.
Similar content being viewed by others
References
Abe K, Matsuda I, Murayama T, Uzuki K, Endo M, Miyakoshi M, Okuno A (1976) X-linked ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation in two siblings. Clin Genet 9:341–345
Blanchet-Bardon CL, Bernheim A, Struz P, Passa P, Puissant A (1981) Syndrome olfacto-génital de Morsier avec ichthyose liéeau sexe (2 cas). Ann Dermatol Venereol 108:605
France JT, Liggins GC (1969) Placental sulfatase deficiency. J Clin Endocrinol Metab 28:138–141
Jöbsis AC, Van Duuren CY, De Vries GB, Koppe JC, Rijken Y, Van Kempen GMJ, De Groot WP (1976) Trophoblast sulphatase deficiency associated with X-chromosomal ichthyosis. Ned T Geneesk 120:1980
Kubilus J, Tarascio AJ, Baden HP (1979) Steroidsulfatase deficiency in sex-linked ichthyosis, Am J Hum Genet 31:50–53
Lundborg H (1927) Geschlechtsgebundene Vererbung von Ichthyosis simplex (vulgaris) in einer schwedischen Bauernsippe. Hereditas 9:45–48
Lynch HT, Ozer F, McNutt CW, Johnson JE, Jampolsky NA (1960) Secondary male hypogonadism and congenital ichthyosis: association of two rare genetic diseases. Am J Hum Genet 12: 440–447
Müller CR, Migl B, Traupe H, Ropers HH (1980) X-linked steroid sulfatasse: evidence for different gene-dosage in males and females. Hum Genet 54:197–199
Perrin JCS, Idemoto JY, Sotos JF, Maurer WF, Steinberg AG (1976) X-linked syndrome of congenital ichthyosis, hypogonadism, mental retardation and anosmia. Birth Defects: Original Article Series, Vol. XII, No. 5:267–274
Shapiro LJ, Weiss R, Buxman MM, Vidgoff J, Dimond RL, Roller JA, Wells RS (1978) Enzymatic basis of typical X-linked ichthyosis. Lancet II:756–757
Shapiro LJ, Mohandas T, Weiss R, Romeo G (1979) Noninactivation of an X-chromosome locus in man. Science 204:1224–1226
Tiepolo I, Zuffardi O, Fraccaro M, DiNatale D, Gargantini L, Müller CR, Ropers HH (1980) Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet 54:205–206
Traupe H, Ropers HH (1982) Cryptorchidism and hypogenitalism in X-linked recessive ichthyosis vulgaris. Hum Genet 60:206
Traupe H, Köwary PM, Schriewer H (1983) X-linked recessive ichthyosis vulgaris: rapid identification by lipoprotein electrophoresis. Arch Dermatol Res (in print)
Wells RS (1966a) Sex-linked ichthyosis, oligophrenia and hypogonadism. Br J Dermatol 78:308
Wells RS (1966b) Sex-linked ichthyosis and oligophrenia. Br J Dermatol 78:309
Wells RS, Kerr CB (1966a) Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. Br Med J 1:947–950
Wells RS, Kerr CB (1966b) The histology of ichthyosis. J Invest Dermatol 46:530–535
Williams MLL, Elias PM (1981) Stratum corneum lipids in disorders of cornification. I. Increased cholesterol sulfate content of stratum corneum in recessive X-linked ichthyosis. J Clin Invest 68:1404–1410
York-Moore ME, Rundle AT (1962) Rud's syndrome. J Ment Defic 6:108–118
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Traupe, H., Happle, R. Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism. Eur J Pediatr 140, 19–21 (1983). https://doi.org/10.1007/BF00661898
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00661898